Gene entry
NLRP1
NLR family pyrin domain containing 1
- Chromosome
- 17
- Cytoband
- 17p13.2
- Variants (rsID)
- 21
NLRP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2). Its official name is “NLR family pyrin domain containing 1”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs11651270Benignsingle nucleotide variantAutoinflammation with arthritis and dyskeratosis|Respiratory papillomatosis, juvenile recurrent, congenital|Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- rs112191372Likely benignsingle nucleotide variant
- rs1057519493Likely pathogenicsingle nucleotide variantCorneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.